Results 91 to 100 of about 100,096 (312)

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Variation in Women's Understanding of Prenatal Testing. [PDF]

, 2015
ObjectiveTo investigate women's understanding of prenatal testing options and of their own experience with screening, diagnostic genetic testing, or both.MethodsThis was a secondary analysis of data from a randomized controlled trial of enhanced ...
Bishop, Judith T, Pena, Sherri, Gregorich, Steven E, Bryant, Allison S, Kuppermann, Miriam, Norton, Mary E, Nakagawa, Sanae   +6 more
core   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Health disparities in chronic liver disease

Hepatology, EarlyView., 2022
Abstract The syndemic of hazardous alcohol consumption, opioid use, and obesity has led to important changes in liver disease epidemiology that have exacerbated health disparities. Health disparities occur when plausibly avoidable health differences are experienced by socially disadvantaged populations.
Ani Kardashian, Marina Serper, Norah Terrault, Lauren D. Nephew   +3 more
wiley   +1 more source

Quality of prenatal care questionnaire: instrument development and testing.

, 2014
Background Utilization indices exist to measure quantity of prenatal care, but currently there is no published instrument to assess quality of prenatal care. The purpose of this study was to develop and test a new instrument, the Quality of Prenatal Care
Kingston, D. A., Akhtar-Danesh, N., Bradford, A., Helewa, M. E., Hutton, E. K., Heaman, M. I., Janssen, P. A., Young, D.C., Tough, S., Sword, W.A.   +9 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

[Prenatal Testing: Use and Abuse] [letter]

, 1985
Prenatal Testing: Use and Abuse ...

core  

Prevalence of syphilis in pregnancy and prenatal syphilis testing in Brazil: Birth in Brazil study

Revista de Saúde Pública, 2014
OBJECTIVE Determine the coverage rate of syphilis testing during prenatal care and the prevalence of syphilis in pregnant women in Brazil. METHODS This is a national hospital-based cohort study conducted in Brazil with 23,894 postpartum women between
Rosa Maria Soares Madeira Domingues, Celia Landmann Szwarcwald, Paulo Roberto Borges Souza Junior, Maria do Carmo Leal   +3 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Midwives and information on prenatal testing with focus on Down syndrome

, 2015
OBJECTIVE: To investigate midwives' knowledge of prenatal diagnosis especially Down syndrome, information given by midwives to parents, expectant parents' requests for information and how midwives perceive their own competence to give information.METHOD:
Ove Axelsson, Anneren, G, Charlotta Ingvoldstad, Ingvoldstad, Charlotta,, Ingvoldstad, C, Axelsson, Ove,, Ellen Ternby, Axelsson, O, Annerén, Göran,, Ternby, Ellen,, Ternby, E, Göran Annerén   +11 more
core   +1 more source